Literature DB >> 3541536

Cystinosis coming of age.

W A Gahl.   

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Year:  1986        PMID： 3541536

Source DB:  PubMed          Journal:  Adv Pediatr        ISSN： 0065-3101


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  22 in total

Review 1.  Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.

Authors:  Ekaterini Tsilou; Min Zhou; William Gahl; Pamela C Sieving; Chi-Chao Chan
Journal:  Surv Ophthalmol       Date:  2007 Jan-Feb       Impact factor: 6.048

2.  Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine.

Authors:  W A Gahl; J A Schneider; J D Schulman; J G Thoene; G F Reed
Journal:  Pediatr Nephrol       Date:  1990-03       Impact factor: 3.714

3.  Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study.

Authors:  C E Kashtan; P T McEnery; A Tejani; D M Stablein
Journal:  Pediatr Nephrol       Date:  1995-12       Impact factor: 3.714

4.  Craniofacial and dental findings in cystinosis.

Authors:  C W Bassim; P Gautam; D L Domingo; J Z Balog; J P Guadagnini; W A Gahl; T C Hart
Journal:  Oral Dis       Date:  2010-03-09       Impact factor: 3.511

5.  CTNS mutations in an American-based population of cystinosis patients.

Authors:  V Shotelersuk; D Larson; Y Anikster; G McDowell; R Lemons; I Bernardini; J Guo; J Thoene; W A Gahl
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

6.  Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule.

Authors:  R F Salmon; M Baum
Journal:  J Clin Invest       Date:  1990-02       Impact factor: 14.808

Review 7.  Nephropathic cystinosis: late complications of a multisystemic disease.

Authors:  Galina Nesterova; William Gahl
Journal:  Pediatr Nephrol       Date:  2008-06       Impact factor: 3.714

8.  Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.

Authors:  W A Gahl; I Bernardini; M Dalakas; W B Rizzo; G S Harper; J M Hoeg; O Hurko; J Bernar
Journal:  J Clin Invest       Date:  1988-02       Impact factor: 14.808

9.  Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage.

Authors:  Sunita Bava; Rebecca J Theilmann; Miriam Sach; Susanne J May; Lawrence R Frank; John R Hesselink; Duc Vu; Doris A Trauner
Journal:  Cortex       Date:  2009-04-05       Impact factor: 4.027

10.  Medullary nephrocalcinosis in nephropathic cystinosis.

Authors:  D S Theodoropoulos; T H Shawker; C Heinrichs; W A Gahl
Journal:  Pediatr Nephrol       Date:  1995-08       Impact factor: 3.714
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